Genome-wide analysis of cold adaption in indigenous Siberian populations. A. Cardona1, T. Antao2, L. Pagani1, D. J. Lawson3, C. A. Eichstaedt1, B. Yngvadottir1, C. Tyler-Smith4, M. T. T. Shwe5, J. Wee5, I. G. Romero6, S. Raj7, R. Villems8, M. Metspalu8, R. Nielsen9, E. Willerslev10, B. A. Malyarchuk11, M. V. Derenko11, T. Kivisild1 1) Division of Biological Anthropology, University of Cambridge, Cambridge, United Kingdom; 2) Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom; 3) Department of Mathematics, University of Bristol, Bristol, United Kingdom; 4) Wellcome Trust Sanger Institute, Hinxton, United Kingdom; 5) National Cancer Centre Singapore, Singapore; 6) Department of Human Genetics, University of Chicago, Chicago, US; 7) Department of Molecular Biology and Genetics, Cornell University, New York, US; 8) Department of Evolutionary Biology, University of Tartu, Estonia; 9) Department of Integrative Biology and Department of Statistics, University of California Berkeley, Berkeley, US; 10) Centre for GeoGenetics, Natural History Museum of Denmark and Department of Biology, University of Copenhagen, Copenhagen, Denmark; 11) Genetics Laboratory, Institute of Biological Problems of the North, Magadan, Russia.

   After the dispersal out of Africa, where hominins evolved in low latitude and warm environments for millions of years, our species has colonised different climate zones of the world, including high latitudes and cold environments. The extent to which human habitation in (sub-) Arctic regions has been enabled by cultural buffering, short-term acclimatization and genetic adaptations is not clearly understood. Present day indigenous populations of Siberia show a number of phenotypic features, such as increased basal metabolic rate, low serum lipid levels, increased blood pressure, short stature and broad skulls that have been attributed to adaptation to the extreme cold climate. We have genotyped 200 individuals from ten indigenous Siberian populations for 730,525 SNPs across the genome to identify genes and non-coding regions that have undergone unusually rapid allele frequency and haplotype homozygosity change in the recent past. At least three distinct population clusters could be identified among the Siberians, each of which showed a number of unique signals of selection. We present a candidate list of cold adaption loci containing novel regions and genes that showed significant signals of positive selection. Amongst other functions, our candidate regions contain genes associated with energy regulation, non-shivering thermogenesis, vascular smooth muscle contraction, regulation of blood pressure and oxidative stress.

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